PKD1 c.7915dup ;(p.R2639Pfs*22)

Variant ID: 16-2155423-C-CG

NM_001009944.2(PKD1):c.7915dup;(p.R2639Pfs*22)

This variant was identified in 1 publication

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

Autosomal Dominant Polycystic Kidney Disease: Presence of Hypomorphic Alleles in PKD1 Gene.

Indian Journal Of Nephrology
Pandita, S S; Khullar, D D; Saxena, R R; Verma, I C IC
Publication Date: 2018

Variant appearance in text: PKD1: 7915dup
PubMed Link: 30647506
Variant Present in the following documents:
  • Main text
View BVdb publication page